Canonical Allele Identifier: PA645434712
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 288799
ClinVar RCV Id: RCV000726224 RCV001326188
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Arg1016Cys
CA10073155
NM_001849.4:c.3046C>T